NM_000384.3(APOB):c.10579C>T (p.Arg3527Trp)Pathogenic
Hypercholesterolemia, autosomal dominant, type B|Hypercholesterolemia, familial, 1|not provided|Familial hypercholesterolemia|Homozygous familial hypercholesterolemia|APOB-related disorder|Hypercholesterolemia, autosomal dominant, type B;Familial hypobetalipoproteinemia 1|Cardiovascular phenotype|Familial hypobetalipoproteinemia 1
★★☆☆2026→ Residue 3527
NM_000384.3(APOB):c.7600C>T (p.Arg2534Ter)Pathogenic
not provided|Hypobetalipoproteinemia|Hypercholesterolemia, autosomal dominant, type B;Familial hypobetalipoproteinemia 1
★★☆☆2026→ Residue 2534
NM_000384.3(APOB):c.10580G>A (p.Arg3527Gln)Pathogenic
Hypercholesterolemia, familial, 1|not provided|Hypercholesterolemia, autosomal dominant, type B|Hypobetalipoproteinemia|Familial hypercholesterolemia|Homozygous familial hypercholesterolemia|Familial hypobetalipoproteinemia 1|Familial hypobetalipoproteinemia 1;Hypercholesterolemia, autosomal dominant, type B|Cardiovascular phenotype|See cases|APOB-related disorder|Familial hypercholesterolemia;Familial hypobetalipoproteinemia 1
★★☆☆2026→ Residue 3527
NM_000384.3(APOB):c.10182G>T (p.Lys3394Asn)Pathogenic
Hypercholesterolemia, familial, 1|Familial hypobetalipoproteinemia 1;Hypercholesterolemia, autosomal dominant, type B|not provided|Hypercholesterolemia, autosomal dominant, type B
★★☆☆2026→ Residue 3394
NM_000384.3(APOB):c.9632dup (p.Asn3211fs)Pathogenic
not provided|Familial hypobetalipoproteinemia 1;Hypercholesterolemia, autosomal dominant, type B
★★☆☆2025→ Residue 3211
NM_000384.3(APOB):c.10238del (p.Thr3413fs)Pathogenic
Hypobetalipoproteinemia|Familial hypobetalipoproteinemia 1|Familial hypobetalipoproteinemia 1;Hypercholesterolemia, autosomal dominant, type B|not provided|Cardiovascular phenotype|Hypercholesterolemia, autosomal dominant, type B|APOB-related disorder
★★☆☆2025→ Residue 3413
NM_000384.3(APOB):c.226_237+1delPathogenic
Familial hypobetalipoproteinemia 1|Hypercholesterolemia, autosomal dominant, type B;Familial hypobetalipoproteinemia 1
★★☆☆2025
NM_000384.3(APOB):c.1315C>T (p.Arg439Ter)Pathogenic
not provided|Cardiovascular phenotype|Hypercholesterolemia, autosomal dominant, type B;Familial hypobetalipoproteinemia 1
★★☆☆2025→ Residue 439
NM_000384.3(APOB):c.8075_8076dup (p.Leu2693fs)Pathogenic
Hypercholesterolemia, autosomal dominant, type B;Familial hypobetalipoproteinemia 1|Cardiovascular phenotype
★★☆☆2025→ Residue 2693
NM_000384.3(APOB):c.7564C>T (p.Arg2522Ter)Pathogenic
Familial hypobetalipoproteinemia|Familial hypobetalipoproteinemia 1|Familial hypobetalipoproteinemia 1;Hypercholesterolemia, autosomal dominant, type B|not provided
★★☆☆2025→ Residue 2522
NM_000384.3(APOB):c.7558C>T (p.Arg2520Ter)Pathogenic
Hypercholesterolemia, autosomal dominant, type B;Familial hypobetalipoproteinemia 1|Cardiovascular phenotype
★★☆☆2025→ Residue 2520
NM_000384.3(APOB):c.5316del (p.Asn1772fs)Pathogenic
not provided|Familial hypobetalipoproteinemia 1;Hypercholesterolemia, autosomal dominant, type B
★★☆☆2025→ Residue 1772
NM_000384.3(APOB):c.6253C>T (p.Arg2085Ter)Pathogenic
Familial hypobetalipoproteinemia|not provided|Familial hypercholesterolemia|Familial hypobetalipoproteinemia 1;Hypercholesterolemia, autosomal dominant, type B
★★☆☆2025→ Residue 2085
NM_000384.3(APOB):c.11124del (p.Phe3708fs)Pathogenic
Hypercholesterolemia, autosomal dominant, type B;Familial hypobetalipoproteinemia 1|not provided
★★☆☆2025→ Residue 3708
NM_000384.3(APOB):c.409G>T (p.Glu137Ter)Pathogenic
Familial hypobetalipoproteinemia 1|not provided|Hypercholesterolemia, autosomal dominant, type B;Familial hypobetalipoproteinemia 1
★★☆☆2025→ Residue 137
NM_000384.3(APOB):c.9115_9119del (p.Phe3039fs)Pathogenic
Familial hypobetalipoproteinemia 1|not provided|Familial hypobetalipoproteinemia 1;Hypercholesterolemia, autosomal dominant, type B|Early-onset coronary artery disease
★★☆☆2025→ Residue 3039
NM_000384.3(APOB):c.6034C>T (p.Arg2012Ter)Pathogenic
Hypercholesterolemia, autosomal dominant, type B;Familial hypobetalipoproteinemia 1
★★☆☆2025→ Residue 2012
NM_000384.3(APOB):c.7363C>T (p.Gln2455Ter)Pathogenic
Familial hypobetalipoproteinemia 1;Hypercholesterolemia, autosomal dominant, type B|Cardiovascular phenotype
★★☆☆2025→ Residue 2455
NM_000384.3(APOB):c.3511G>T (p.Glu1171Ter)Pathogenic
Hypercholesterolemia, autosomal dominant, type B;Familial hypobetalipoproteinemia 1|not provided
★★☆☆2025→ Residue 1171
NM_000384.3(APOB):c.7699C>T (p.Gln2567Ter)Pathogenic
Familial hypobetalipoproteinemia 1;Hypercholesterolemia, autosomal dominant, type B|not provided
★★☆☆2025→ Residue 2567